DisGeNET - a database of gene-disease associations

Difficulty walking, C0311394

Variant: rs1565930588 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1565930588

HSPB8

0.700

GeneticVariation

CLINVAR

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

29029362

2018

dbSNP:

rs1565930588

HSPB8

0.700

GeneticVariation

CLINVAR

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

28501893

2017

dbSNP:

rs1565930588

HSPB8

0.700

GeneticVariation

CLINVAR

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

26976520

2016